Variant #0000794207 (NC_000005.9:g.92920780_92920798dup, NR2F1(NM_005654.4):c.51_69dup)

Individual ID 00379757
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.92920780_92920798dup
DNA change (hg38) g.93585074_93585092dup
Published as -
ISCN -
DB-ID NR2F1_000094
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jinu Han
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jinu Han
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NR2F1 NM_005654.4 +?/. - c.51_69dup r.(?) p.(Asn24Glyfs*379)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000380958 DNA SEQ-NG-I - - - 1 Jinu Han